Varaico: Literature-Extracted Genetic Variants

Gene:MC2R
Variant:p.L115V

MC2R

286 papers

RefSeq Summary

MC2R encodes one member of the five-member G-protein associated melanocortin receptor family. Melanocortins (melanocyte-stimulating hormones and adrenocorticotropic hormone) are peptides derived from ...

Pfam Domains

7tm_1aa 41–276UCSC7 transmembrane receptor (rhodopsin family)

Gene Aliases

HGNC Name

melanocortin 2 receptor

HGNC Alias Symbol

ACTHR

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
4 papers
NM_000529.2
p.L115V
c.343C>G
Surrounding Variants
9 papers
NM_000529.2
p.G116V
c.347G>T
1 paper
NM_000529.2
p.G116delFs
c.347_348delGC
1 paper
NM_000529.2
p.L112I
c.334C>A
1 paper
NM_000529.2
p.S117delFs
c.351delG
2 papers
NM_000529.2
p.I118fs
c.352_353fs
1 paper
NM_000529.2
p.F119fs
c.355_356fs
4 papers
NM_000529.2
p.F119fs
c.355_356fs
20 papers
NM_000529.2
p.S120R
c.358A>C
1 paper
NM_000529.2
p.F119delFs
c.357delG
1 paper
NM_000529.2
p.L109Q
c.326T>A
1 paper
NM_000529.2
p.S108delFs
c.323_324delGG
20 papers
NM_000529.2
p.S120R
c.360C>G
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."